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Condition report · Ophthalmological

RAB28-Related Cone-Rod Dystrophy

A rare inherited eye condition in which the cone and then rod cells of the retina gradually stop working, affecting central and colour vision first. It is caused by changes in both copies of RAB28.

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The condition we analyse

RAB28-Related Retinopathy

Autosomal recessive

Caused by changes in both copies of RAB28, which encodes a small protein involved in the renewal of photoreceptor outer segments.

Signs and symptoms

Reduced central vision and poor colour vision, with reduced night vision from rod involvement. Changes at the macula, such as pigmentation, are seen on eye examination. The condition is progressive.

What a diagnosis changes

Regular eye assessment and low-vision aids. Both parents are carriers, so genetic counselling and carrier testing for relatives are offered.

Genes analysed

Also known as

cone-rod dystrophy 18; cone-rod dystrophy caused by mutation in RAB28; cone-rod dystrophy type 18; CORD18; RAB28 cone-rod dystrophy; RAB28 retinopathy

Includes 1 related subtype ↓
  • cone-rod dystrophy 18
MONDO:0100448Sources: [2][1][3]

References

  1. Ying G, Boldt K, Ueffing M, Gerstner CD, Frederick JM, Baehr W, 2019. The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium. The Journal of biological chemistry
  2. Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J et al., 2013. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. American journal of human genetics
  3. Moran AL, Carter SP, Kaylor JJ, Jiang Z, Broekman S, Dillon ET et al., 2022. Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28. FASEB journal : official publication of the Federation of American Societies for Experimental Biology

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